Human Gene CAMTA2 (ENST00000381311.9) from GENCODE V44
  Description: Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 2, mRNA. (from RefSeq NM_001171166)
RefSeq Summary (NM_001171166): The protein encoded by this gene is a member of the calmodulin-binding transcription activator protein family. Members of this family share a common domain structure that consists of a transcription activation domain, a DNA-binding domain, and a calmodulin-binding domain. The encoded protein may be a transcriptional coactivator of genes involved in cardiac growth. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010].
Gencode Transcript: ENST00000381311.9
Gencode Gene: ENSG00000108509.21
Transcript (Including UTRs)
   Position: hg38 chr17:4,967,997-4,987,650 Size: 19,654 Total Exon Count: 21 Strand: -
Coding Region
   Position: hg38 chr17:4,968,756-4,987,629 Size: 18,874 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:4,967,997-4,987,650)mRNA (may differ from genome)Protein (1197 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CMTA2_HUMAN
DESCRIPTION: RecName: Full=Calmodulin-binding transcription activator 2;
FUNCTION: Transcription activator. May act as tumor suppressor.
SUBUNIT: May interact with calmodulin (Potential).
INTERACTION: P42582:Nkx2-5 (xeno); NbExp=2; IntAct=EBI-936534, EBI-297021;
SUBCELLULAR LOCATION: Nucleus (Probable).
TISSUE SPECIFICITY: Detected in brain. Expressed at constant levels throughout the cell cycle in neuroblastoma cell lines.
SIMILARITY: Belongs to the CAMTA family.
SIMILARITY: Contains 3 ANK repeats.
SIMILARITY: Contains 1 CG-1 DNA-binding domain.
SIMILARITY: Contains 1 IPT/TIG domain.
SIMILARITY: Contains 2 IQ domains.
SEQUENCE CAUTION: Sequence=AAH16163.1; Type=Frameshift; Positions=865; Sequence=BAA74932.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CAMTA2
Diseases sorted by gene-association score: miller-dieker lissencephaly syndrome (5), neuroblastoma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 65.14 RPKM in Brain - Cerebellum
Total median expression: 1204.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00210.000 Picture PostScript Text
3' UTR -270.80759-0.357 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020683 - Ankyrin_rpt-contain_dom
IPR005559 - CG-1_dom
IPR013783 - Ig-like_fold
IPR014756 - Ig_E-set
IPR002909 - IPT_TIG_rcpt
IPR000048 - IQ_motif_EF-hand-BS

Pfam Domains:
PF03859 - CG-1 domain
PF00612 - IQ calmodulin-binding motif
PF01833 - IPT/TIG domain

ModBase Predicted Comparative 3D Structure on O94983
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGD  WormBase 
Protein SequenceProtein Sequence  Protein Sequence 
AlignmentAlignment  Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0042826 histone deacetylase binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0014898 cardiac muscle hypertrophy in response to stress
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BC142606 - Homo sapiens cDNA clone IMAGE:40147091, containing frame-shift errors.
AL831849 - Homo sapiens mRNA; cDNA DKFZp761C18121 (from clone DKFZp761C18121).
BC167148 - Homo sapiens calmodulin binding transcription activator 2, mRNA (cDNA clone MGC:176636 IMAGE:8862515), complete cds.
BC167149 - Homo sapiens calmodulin binding transcription activator 2, mRNA (cDNA clone MGC:176637 IMAGE:8862516), complete cds.
BC167151 - Homo sapiens calmodulin binding transcription activator 2, mRNA (cDNA clone MGC:176648 IMAGE:8862527), complete cds.
BC167160 - Homo sapiens calmodulin binding transcription activator 2, mRNA (cDNA clone MGC:176715 IMAGE:8862594), complete cds.
AL833974 - Homo sapiens mRNA; cDNA DKFZp564D102 (from clone DKFZp564D102).
BC142695 - Homo sapiens calmodulin binding transcription activator 2, mRNA (cDNA clone MGC:165013 IMAGE:40148717), complete cds.
AB020716 - Homo sapiens KIAA0909 mRNA for KIAA0909 protein.
BC136534 - Homo sapiens calmodulin binding transcription activator 2, mRNA (cDNA clone MGC:168147 IMAGE:9020524), complete cds.
BC144232 - Homo sapiens calmodulin binding transcription activator 2, mRNA (cDNA clone MGC:177769 IMAGE:9052752), complete cds.
EU832136 - Synthetic construct Homo sapiens clone HAIB:100067165; DKFZo008E0225 calmodulin binding transcription activator 2 protein (CAMTA2) gene, encodes complete protein.
EU832229 - Synthetic construct Homo sapiens clone HAIB:100067258; DKFZo004E0226 calmodulin binding transcription activator 2 protein (CAMTA2) gene, encodes complete protein.
AB385400 - Synthetic construct DNA, clone: pF1KA0909, Homo sapiens CAMTA2 gene for calmodulin-binding transcription activator 2, complete cds, without stop codon, in Flexi system.
AK302528 - Homo sapiens cDNA FLJ58437 complete cds, moderately similar to Calmodulin-binding transcription activator 2.
BC032381 - Homo sapiens calmodulin binding transcription activator 2, mRNA (cDNA clone IMAGE:5180332), complete cds.
BC016163 - Homo sapiens calmodulin binding transcription activator 2, mRNA (cDNA clone IMAGE:3357188), complete cds.
BC010050 - Homo sapiens calmodulin binding transcription activator 2, mRNA (cDNA clone IMAGE:3840178), partial cds.
JD483109 - Sequence 464133 from Patent EP1572962.
JD195897 - Sequence 176921 from Patent EP1572962.
JD219853 - Sequence 200877 from Patent EP1572962.
JD131850 - Sequence 112874 from Patent EP1572962.
JD391604 - Sequence 372628 from Patent EP1572962.
JD112990 - Sequence 94014 from Patent EP1572962.
JD530986 - Sequence 512010 from Patent EP1572962.
JD400041 - Sequence 381065 from Patent EP1572962.
JD117629 - Sequence 98653 from Patent EP1572962.
JD205801 - Sequence 186825 from Patent EP1572962.
JD394673 - Sequence 375697 from Patent EP1572962.
JD548924 - Sequence 529948 from Patent EP1572962.
JD543429 - Sequence 524453 from Patent EP1572962.
JD401279 - Sequence 382303 from Patent EP1572962.
JD191365 - Sequence 172389 from Patent EP1572962.
JD365758 - Sequence 346782 from Patent EP1572962.
JD271604 - Sequence 252628 from Patent EP1572962.
JD040212 - Sequence 21236 from Patent EP1572962.
JD135199 - Sequence 116223 from Patent EP1572962.
KJ902286 - Synthetic construct Homo sapiens clone ccsbBroadEn_11680 CAMTA2 gene, encodes complete protein.
AK308666 - Homo sapiens cDNA, FLJ98707.
AK307947 - Homo sapiens cDNA, FLJ97895.

-  Other Names for This Gene
  Alternate Gene Symbols: B9EGL0, CMTA2_HUMAN, D3DTL5, ENST00000381311.1, ENST00000381311.2, ENST00000381311.3, ENST00000381311.4, ENST00000381311.5, ENST00000381311.6, ENST00000381311.7, ENST00000381311.8, KIAA0909, NM_001171166, O94983, Q7Z6M8, Q8N3V0, Q8NDG4, Q96G17, uc002gai.1, uc002gai.2, uc002gai.3
UCSC ID: ENST00000381311.9
RefSeq Accession: NM_001171166
Protein: O94983 (aka CMTA2_HUMAN)
CCDS: CCDS11063.1, CCDS54071.1, CCDS54073.1, CCDS54072.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.